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| Fetal anomalies v0.134 | COL11A2 | Rebecca Foulger edited their review of gene: COL11A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COL11A2 | Rebecca Foulger commented on gene: COL11A2: DDG2P rating in original PAGE list: Confirmed for AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, Confirmed for DEAFNESS AUTOSOMAL DOMINANT TYPE 13, Confirmed for DEAFNESS AUTOSOMAL RECESSIVE TYPE 53, Confirmed for STICKLER SYNDROME TYPE 3 and Confirmed for WEISSENBACHER-ZWEYMUELLER SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | COL11A2 | Rebecca Foulger reviewed gene: COL11A2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | COL11A2 | Rebecca Foulger Added phenotypes WEISSENBACHER-ZWEYMUELLER SYNDROME for gene: COL11A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | COL11A2 | Rebecca Foulger Added phenotypes STICKLER SYNDROME TYPE 3 for gene: COL11A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | COL11A2 | Rebecca Foulger Added phenotypes DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 for gene: COL11A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | COL11A2 | Rebecca Foulger Added phenotypes DEAFNESS AUTOSOMAL DOMINANT TYPE 13 for gene: COL11A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | COL11A2 |
Rebecca Foulger gene: COL11A2 was added gene: COL11A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COL11A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL11A2 were set to AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA |
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